1. Anita Nowak, RDMS, MBA Manager, Imaging Magee-Womens Hospital of UPMC

2.  Anencephaly  Spina Bifida  Cleft Lip  Gastroschisis/Omphalocele  Trisomy 18  Conjoined Twins

3. Looking at Ultrasounds is very much like looking at clouds

4. Use your imagination to find the cat in the ultrasound

5.  The absence of the cranial vault

6.  If early in pregnancy, brain tissue can be seen  Head has an irregular shape  There is no soft tissue seen above the orbits  Face – eyes appear “frog like”

13.  There are many forms of neural tube defects, Spina Bifida is the most common of the central nervous system  A midline defect of the vertebrae that results in exposure of the contents of the neural canal  Can be genetic

14.  Meningocele ◦ Anechoic cystic mass ◦ Rarely covered by skin ◦ Does not contain neural tissue  Myelomeningocele ◦ Complex cystic mass ◦ Contains neural tissue  Chiari II Malformation seen in 99% of cases ◦ Absent cisterna magna  “Banana Sign” Abnormal cerebellum  Ventriculomegaly  Lemon shaped calvarium

22.  2 nd most common congenital malformation  Estimated to be 1:700 live births  50% both lip and palate are defective  Can be caused by both genetic and environmental factors  97% of the time it is an isolated finding  Occurs shortly after 3 rd week of gestation when the grooves that separate the structures that form the primitive oral cavity persist, they would normally be obliterated by normal growth.  Most commonly seen is a unilateral cleft

23.  Upper lip defect on nose/mouth view

28.  Gastroschisis is a paraumbilical defect of the anterior abdominal wall.  Incidence ranges from 1:10,000 to 1:15,000  Is not associated with an increased risk of other anomalies  Not usually associated with a chromosomal abnormality

29.  Normal umbilical cord insertion site  Small bowel loops seen in the amniotic cavity  No covering membrane over the loops of bowel  Can include stomach and large bowel  Majority occur to the right of the umbilical cord

33.  A ventral wall defect where there is herniation of the intraabdominal contents into the base of the umbilical cord  Unlike gastroschisis, there is a membrane covering these contents  Estimated to occur in 1:5800 to 1:5130  Most cases are sporadic  Unlike gastroschisis this condition IS often associated with a chromosomal abnormality

34.  Umbilical cord insertion is typically midline on the mass  Located centrally  Typically the contents of the mass are liver and small bowel; however, other abdominal organs can be present

40.  Also called Edwards Syndrome  There are three 18th chromosomes instead of two  Multiple major anomalies are seen  Occurs in approximately 1:2500 pregnancies  50% carried to term will be stillborn  Of those that survive, only 10% survive to their first birthday  Not genetic – typically occur sporadically

41.  Clenched Hands  Choroid plexus cysts  “Strawberry” shaped head  Intrauterine growth restriction  Cardiac defects  Micrognathia  Low set ears

46.  Incidence is 1:50,000 to 1:100,000  Sporadic event caused by an incomplete division of the embryonic cell mass  Different types of conjoined twins ◦ Craniopagus – joined at the brain ◦ Thoracopagus – joined at the heart ◦ Omphalopagus – Xiphopagus – joined at the abdomen ◦ Pygopagus – joined at the buttocks and lower spine ◦ Ischiopagus – joined at the hips

47.  Joined on any portion of the skull except the face  Share the bones of the cranium  Have two trunks, four arms and legs

48.  Most common form of conjoined twins  Congenital heart disease found in 75% of cases  The union always includes the heart  Most frequent abnormality is a conjoined heart with two ventricles and a varying number of atria

50.  Attached in the lower abdomen  Remain facing each other throughout the exam

51.  Joined at the buttocks and lower spine  Face away from each other  Have one anus, two rectums, four arms and legs

52.  Joined end to end with the spine in a straight line  Four arms and a variable number of legs  Have only one external genitalia